Dystrophin
- 26 May 1988
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 318 (21) , 1392-1394
- https://doi.org/10.1056/nejm198805263182110
Abstract
THE paper by Hoffman et al.1 in this issue of the Journal is one of a series of landmark papers from the laboratory of Louis M. Kunkel. "Dystrophin" is the name that Kunkel and colleagues have given to a "new" protein, the product of the gene that is affected in Duchenne's muscular dystrophy.2 Hoffman et al. now report abnormalities of dystrophin in two similar but not identical disorders, Duchenne's and Becker's muscular dystrophy. Severe myopathy defines the Duchenne phenotype, which is detectable at birth because serum levels of creatine kinase and other sarcoplasmic enzymes are high and which becomes clinically . . .Keywords
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